| 朱娟娟,崇慧峰,胡志军,等.铜陵地区脑卒中病人 MTHFR C677T基因多态性分布及同型半胱氨酸水平分析[J].安徽医药,2020,24(5):895-898. |
| 铜陵地区脑卒中病人 MTHFR C677T基因多态性分布及同型半胱氨酸水平分析 |
| Analysis of MTHFR C677T gene polymorphis and homocysteine level in stroke patients in Tongling area |
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| DOI：10.3969/j.issn.1009?6469.2020.05.012 |
| 中文关键词: 卒中 5，10?亚甲基四氢叶酸还原酶( FADH2) 扩增片段长度多态性分析 基因多态性 同型半胱氨酸 |
| 英文关键词: Stroke 5,10?Methylenetetrahydrofolate reductase(FADH2) Amplified fragment length polymorphism analysis Gene polymorphism Homocysteine |
| 基金项目:国家自然科学青年科学基金项目( 81500473)；安徽省铜陵市卫生局科研课题资助项目(卫科研〔 2019〕17号) |
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| 中文摘要: |
| 目的探讨铜陵地区脑卒中病人 5，10?亚甲基四氢叶酸还原酶( methylenetetrahydrofolate reductase，MTHFR)C677T基因多态性分布的特点及同型半胱氨酸( Homocysteine，Hcy)的水平。方法选取 2017年 6月到 2019年 4月铜陵市人民医院的脑卒中病人 234例、非脑卒中对照者 69例，用焦磷酸测序技术检测 MTHFR基因 C667T多态性，循环酶法检测血清 Hcy水平，比较不同组别 MTHFR基因型分布特点，并分析不同基因型 Hcy水平的差异。结果脑卒中组基因型分布为 CC型 73例( 31.2%)CT型 114例( 48.7%)TT型 47例( 20.1%)，基因型分布无性别差异；脑卒中组等位基因 T频率( 44.4%)高于对照组等位基因 T频，率( 33.3%)，差异有统计，学义( P＜0.05)；脑卒中组 CC、CT、TT基因型 Hcy水平分别为 9.20(7.50，12.35)μmol/L、9.60(7.60， 12.85)μmol/L、16.00(10.45，30.05)μmol/L，其中 TT基因型病人的 Hcy水平高于同组 CT、CC基因型病人的 Hcy水平，差异有统计学意义( P＜0.05)；脑卒中组 TT基因型病人的 Hcy水平高于对照组同种基因型的 Hcy水平，差异有统计学意义( P＜0.05)。结论铜陵地区脑卒中病人 MTHFR C677T基因突变频率较高并与 Hcy水平相关，可能是脑卒中的危险因素。 |
| 英文摘要: |
| Objective To investigate the distribution of methylenetetrahydrofolate reductase(MTHFR)gene C677T polymorphism of and the level of homocysteine(Hcy)in stroke patients in Tongling area.Methods 234 stroke patients and 69 healthy controls were selected from Tongling People’s Hospital from June 2017 to April 2019.The polymorphism of MTHFR C667T was detected bypyrophosphate sequencing technique.Serum Hcy level was detected by circulating enzyme method.The distribution characteristics ofMTHFR genotypes in different groups were compared and the differences of Hcy levels among different genotypes were analyzed.Results In the stroke group，MTHFR C667T genotype distribution was CC genotype 73 cases(31.2%)，CT genotype 114 cases(48.7%)，TT genotype 47 cases(20.1%).There was no gender difference in genotype distribution.The frequency of T allele in the stroke group(44.4%)was higher than that in the control group(33.3%)，the difference was statistically significant(P＜0.05).In the stroke group，Hcy of CC，CT and TT genotype were 9.20(7.50，12.35)μmol/L，9.60(7.60，12.85)μmol/L and 16.00(10.45，30.05)μmol/L，respectively.Hcy in TT genotype patients were higher than those in CT and CC genotype(P＜0.05).Compared with the control group，Hcy of TT genotype patients in the stroke group was higher(P＜0.05).Conclusion The frequency of MTHFR C677T gene mutation is higher in stroke patients in Tongling area，which is related to the level of Hcy，and may be a risk factor for stroke. |
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